(Q33744461)

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Monosomy 1p36.

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31 October 2019

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Europe PubMed Central

Monosomy 1p36 (English)

1 reference

Europe PubMed Central

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31 October 2019

author name string

Slavotinek A

1

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31 October 2019

Shaffer LG

2

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31 October 2019

Shapira SK

3

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31 October 2019

language of work or name

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publication date

1 September 1999

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31 October 2019

Journal of Medical Genetics

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31 October 2019

36

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31 October 2019

657-663

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31 October 2019

9

1 reference

Europe PubMed Central

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31 October 2019

RING-1 CHROMOSOME AND MICROCEPHALIC DWARFISM

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Genetic changes associated with primary Merkel cell carcinoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Molecular analysis of the region of distal 1p commonly deleted in neuroblastoma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Molecular-cytogenetic detection of a deletion of 1p36.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Monosomy 1p36.31-33-->pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Constitutional 1p36 deletion in a child with neuroblastoma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Gametic imprinting in mammals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Ring-1 chromosome, microcephalic dwarfism, and acute myeloid leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Clinical consequences of deletion 1p35.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Partial 1p monosomy in a physically and mentally retarded boy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Constitutional translocation t(1;17)(p36;q12-21) in a patient with neuroblastoma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Deletion of chromosome 1p: a short review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Reciprocal translocation t(1;15)(p36.2;p11.2): confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting monosomy (1p).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

21 June 2018

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

30 October 2018

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

30 October 2018

Deletion mapping in neuroblastoma cell lines suggests two distinct tumor suppressor genes in the 1p35-36 region, only one of which is associated with N-myc amplification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734434

30 October 2018

Delimitation of a critical tumour suppressor region at distal 1p in neuroblastoma tumours

1 reference

https://pubmed.ncbi.nlm.nih.gov/10507720

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ring 1 chromosome and dwarfism—a possible syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10507720

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apparently non-deleted ring-1 chromosome and extreme growth failure in a mentally retarded girl

1 reference

https://pubmed.ncbi.nlm.nih.gov/10507720

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/10507720

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The level of 6-phosphogluconate dehydrogenase (6-PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub-band p36.3 on chromosome 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/10507720

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A hypervariable repeated sequence on human chromosome 1p36

1 reference

https://pubmed.ncbi.nlm.nih.gov/10507720

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for two tumour suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/10507720

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of chromosome 1p loci and microsatellite instability in neuroblastomas analyzed with short-tandem repeat polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/10507720

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of heterozygosity on the short arm of chromosomes 1 and 3 in sporadic pheochromocytoma and extra-adrenal paraganglioma

1 reference

https://pubmed.ncbi.nlm.nih.gov/10507720

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10507720

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early urethral obstruction sequence and unbalanced translocation with terminal 10p duplication/1p deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10507720

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10507720%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10507720%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

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